Variant report

Variant	rs4871363
Chromosome Location	chr8:124421255-124421256
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124416051..124418848-chr8:124419770..124421913,2	MCF-7	breast:
2	chr8:124419214..124422869-chr8:124424403..124427101,4	K562	blood:
3	chr8:124420257..124422233-chr8:124425540..124427078,2	MCF-7	breast:
4	chr8:124412329..124414016-chr8:124419223..124421843,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254294	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10106648	0.85[EUR][1000 genomes]
rs10106777	0.85[EUR][1000 genomes]
rs10110934	0.83[EUR][1000 genomes]
rs11780128	0.86[EUR][1000 genomes]
rs12235062	0.85[EUR][1000 genomes]
rs12541494	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12545841	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12547262	0.87[EUR][1000 genomes]
rs12675771	0.86[EUR][1000 genomes]
rs1967032	0.86[EUR][1000 genomes]
rs28485832	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs28633322	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs3779986	0.83[EUR][1000 genomes]
rs3824251	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3824254	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs3905739	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4006575	0.91[ASN][1000 genomes]
rs4307325	0.91[ASN][1000 genomes]
rs4870853	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4871378	0.86[EUR][1000 genomes]
rs4871380	0.85[EUR][1000 genomes]
rs55766597	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6470153	0.86[EUR][1000 genomes]
rs6993896	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6994481	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7001767	0.86[EUR][1000 genomes]
rs7012822	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7341643	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831449	chr8:124276685-124471740	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3415547	chr8:124420820-124444289	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4871363	WDYHV1	cis	Heart Left Ventricle	GTEx
rs4871363	C8orf32	Cis_1M	lymphoblastoid	RTeQTL
rs4871363	WDYHV1	cis	Thyroid	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124409400-124421400	Weak transcription	Right Ventricle	heart
2	chr8:124409400-124424800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:124409400-124427600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:124409400-124427600	Weak transcription	A549	lung
5	chr8:124409400-124428000	Weak transcription	Brain Anterior Caudate	brain
6	chr8:124409600-124424600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:124409600-124424800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:124409800-124424600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:124409800-124427800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:124414400-124425000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:124416200-124424200	Weak transcription	Ovary	ovary
12	chr8:124416200-124424800	Weak transcription	Fetal Intestine Small	intestine
13	chr8:124416200-124425800	Weak transcription	Left Ventricle	heart
14	chr8:124416200-124427800	Weak transcription	Pancreas	Pancrea
15	chr8:124416800-124424200	Weak transcription	Fetal Heart	heart
16	chr8:124417800-124421800	Enhancers	HepG2	liver
17	chr8:124418400-124428200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr8:124420200-124424800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:124420400-124425000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr8:124421200-124424200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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